5 results match your criteria: "Center of Rare Disorders[Affiliation]"
Evaluation of the Nordic Musculoskeletal Questionnaire for Measuring Prevalence and the Consequence of Pain in a Danish Adult OI Population: A Pilot Study.
Calcif Tissue Int
October 2024
Bone and Mineral Unit, Department of Endocrinology, Odense University Hospital, Odense, Denmark.
Pain is a challenge in persons with OI and causes much concern in the Osteogenesis Imperfecta (OI) population. We aim to evaluate the usability of the Nordic Musculoskeletal Questionnaire (NMQ) to identify painful sites in adults with OI and to describe the occurrence of musculoskeletal (MSK) pain and its impact on their work and daily activities. This cross-sectional pilot study uses the OI-NMQ to study MSK pain prevalence in nine separate anatomical regions (neck, upper back, lower back, shoulder, elbow, hand/wrist, hip, knee, and ankle/foot) and its impact on regular work and daily activities in adults with OI.
View Article and Find Full Text PDFThe relationship between vocabulary and grammar in two children with 5p deletion syndrome.
Clin Linguist Phon
June 2024
MultiLing - Center for Multilingualism in Society Across the Lifespan, University of Oslo, Oslo, Norway.
5p deletion syndrome is a rare genetic condition associated with severe speech and language problems. In general, research on speech and language skills is scarce, but there is more knowledge on phonetic and phonological skills than on lexical and grammatical skills. And till now no studies have addressed the relationship between grammar and vocabulary.
View Article and Find Full Text PDFPhenotype diversity associated with TP63 mutations.
J Dtsch Dermatol Ges
June 2022
Institute of Human Genetics, Medical Faculty and University Hospital Düsseldorf, Heinrich-Heine-University, Düsseldorf, Germany.
Novel EXOSC3 pathogenic variant results in a mild course of neurologic disease with cerebellum involvement.
Eur J Med Genet
February 2020
Heinrich-Heine-University, Medical Faculty, Institute of Human Genetics, Düsseldorf, Germany; Heinrich-Heine-University, Medical Faculty, Center of Rare Disorders, Düsseldorf, Germany. Electronic address:
EXOSC3-related autosomal recessive neurodevelopmental disorders are rare entities with variable clinical course and prognosis. They are characterized by hypoplasia of cerebellar structures and pons, degeneration of the anterior horn cells and motor as well as neurocognitive impairment. Phenotypic expression is variable with an overall poor outcome.
View Article and Find Full Text PDFClinical Outcome, Hormonal Status, Gonadotrope Axis, and Testicular Function in 219 Adult Men Born With Classic 21-Hydroxylase Deficiency. A French National Survey.
J Clin Endocrinol Metab
June 2015
University Paris-Sud (C.B., L.E., J.Y.), Assistance Publique Hôpitaux de Paris, Paris, France; Department of Pediatric Endocrinology (C.B., L.E.), Bicêtre Hospital, F-94275 Le Kremlin Bicêtre, France; French Reference Center of Rare Disorders of Sexual Development, (C.B., L.E., A.B.d.l.P., Y.M., V.T.-G., J.Y.), F-94275 Le Kremlin Bicetre, France; Department of Endocrinology (P.R.-P.), Tours Hospital, F-37380 Tours, France; Department of Endocrinology (A.B.d.l.P.), Lyon University Hospital, F-69000 Lyon, France; Department of Endocrinology (F.I.), Angers Hospital, Angers, France; Department of Endocrinology (V.K.), Brest University Hospital, F-29600 Brest, France; Department of Endocrinology (V.P.-V.), Brabois Hospital, F-54200 Nancy, France; Department of Endocrinology (D.Dr.), Nantes University Hospital, F-44000 Nantes, France; Department of Reproductive Endocrinology (S.C.-M.), St-Antoine Hospital, F-75012 Paris, France; Department of Endocrinology (F.G., D.P.), Rennes Hospital, F-35203 Rennes, France; Department of Endocrinology (T.B.), La Timone Hospital, F-13385 Marseilles, France; Department of Endocrinology (Y.R.), Hospital Nacre, Caen, France; Department of Endocrinology (F.S.), Jean Minjoz Hospital, Besançon, France; Department of Endocrinology (X.P.), Poitiers Hospital, Poitiers, France; Department of Endocrinology (G.C.), Strasbourg Hospital, F-67000 Strasbourg, France; Department of Endocrinology (B.D.), Reims Hospital, F-51100 Reims, France; Department of Endocrinology (I.T.), Clermond-Ferrand Hospital, F-63100 Clermond-Ferrand, France; Department of Endocrinology (M.-L.R.-S.), Ambroise Paré Hospital, F-92104 Boulogne-Billancourt, France; Department of Endocrinology (PE), Orléans Hospital, Orléans, France; Department of Endocrinology (J.B.), Cochin Hospital, Paris, France; Department of Endocrinology (J.-M.K.), Rouen Teaching Hospital, F-76031 Rouen, France; Department of Endocrinology, Toulouse Teaching Hospital, F-31059; Department of Pediatric
Context: Outcomes of congenital adrenal hyperplasia due to classic 21-hydroxylase deficiency (21OHD) have been widely studied in children and women, but less so in men.
Objective: The objective was to analyze data from a network of metropolitan French teaching hospitals on the clinical outcome of classic 21OHD in a large sample of congenital adrenal hyperplasia/21OHD-genotyped adult men, and particularly the impact of 21OHD on the gonadotrope axis, testicular function, and fertility.
Methods: From April 2011 to June 2014, tertiary endocrinology departments provided data for 219 men with 21OHD (ages, 18-70 y; 73.